Varaico: Literature-Extracted Genetic Variants

Gene:XRCC4
Variant:p.R161Q
Back to variants list

XRCC4

NM_003401.5:p.R161Q

Associated Papers

Pathogenic variation in human DNA damage repair genes was originated from the evolutionary process of modern humans.

Li J et al.

Genes & Diseases, 2026

41624906 (PubMed )
Supplement: mmc1.xlsx › Sheet1

XRCC4-related microcephalic primordial dwarfism: description of a clinical series of 7 cases, phenotype expansion and new diagnostic approaches.

Cuinat S et al.

European Journal of Human Genetics : Ejhg, 2025

Pathogenic variants in human DNA damage repair genes mostly arose after the latest human out-of-Africa migration.

He J et al.

Frontiers in Genetics, 2024

38948361 (PubMed )
Supplement: Table2.XLSX › Sheet1

Distinct landscapes of deleterious variants in DNA damage repair system in ethnic human populations.

Qin Z et al.

Life Science Alliance, 2022

35595529 (PubMed )
Supplement: LSA-2021-01319_TableS1.xlsx › Sheet_1

Genetic polymorphisms in DNA repair genes and hepatocellular carcinoma risk.

Ghaderi-Zefrehi H et al.

Dna Repair, 2021

Functional analysis of XRCC4 mutations in reported microcephaly and growth defect patients in terms of radiosensitivity.

Asa ADDC et al.

Journal of Radiation Research, 2021

The XRCC4 rs1805377 polymorphism is not associated with the risk of cancer: An updated meta-analysis.

Zhang XY et al.

The Journal of International Medical Research, 2020

Mutations in XRCC4 cause primordial dwarfism without causing immunodeficiency.

Saito S et al.

Journal of Human Genetics, 2016

Mutations in XRCC4 cause primary microcephaly, short stature and increased genomic instability.

Rosin N et al.

Human Molecular Genetics, 2015

[Study on polymorphisms in metabolic enzyme genes, DNA repair genes and individual susceptibility to hepatocellular carcinoma].

Ye XP et al.

Wei Sheng Yan Jiu = Journal of Hygiene Research, 2006

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."